Brachymorphism onychodysplasia dysphalangism syndrome
Overview
Three unrelated children are reported with intrauterine proportionate growth retardation and facial dysmorphism (broad nose, flat malar area, large mouth, pointed chin), microcephaly, hypo/aplasia of the terminal fifth digits, and (sub)normal intelligence. Radiological findings include hypo/aplasia or fusion of the distal phalanges of the fifth finger and toe, brachymesophalangism V, and nail dysplasia or aplasia. One child had cystic adenomatoid disease of the lung. The pattern of anomalies presented by these children closely resembles a syndrome incompletely delineated in 1971 by Senior in six children, which has often been considered to be a mild form of Coffin-Siris syndrome. We suggest that this is an independent entity (BOD syndrome). The aetiology is still unknown. Differential diagnosis and nosological difficulties are discussed.
Causes
This disorder may be a mild form of Coffin-Siris syndrome or an independent entity. Verloes et al. (1993) suggested that it be called the brachymorphism-onychodysplasia-dysphalangism syndrome (BOD syndrome) because 'Senior syndrome' runs the risk of confusion with the Senior-Loken syndrome